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Cyp27a1 Gene Detail
Summary
  • Symbol
    Cyp27a1
  • Name
    cytochrome P450, family 27, subfamily a, polypeptide 1
  • Synonyms
    1300013A03Rik, cholesterol 27 hydroxylase, Cyp27
  • Feature Type
    protein coding gene
  • IDs
    MGI:88594
    NCBI Gene: 104086
  • Gene Overview
    MyGene.info: CYP27A1
Location & Maps
more
  • Sequence Map
    Chr1:74713574-74737892 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      24319 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    CYP27A1, cytochrome P450 family 27 subfamily A member 1
  • Vertebrate Orthologs
    16
  • Human Ortholog
    CYP27A1, cytochrome P450 family 27 subfamily A member 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CP27, CTX, CYP27
  • Links
    NCBI Gene ID: 1593
    neXtProt AC: NX_Q02318

  • Chr Location
    2q35; chr2:218781749-218815293 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human CYP27A1 associations

Human Disease Mouse Models
       Cerebrotendinous Xanthomatosis; CTX   OMIM: 213700
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    4 phenotypes from 1 allele in 1 genetic background
    5 phenotypes from multigenic genotypes
    31 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    9
  • Chemically induced (other)
    1
  • Radiation induced
    2
  • Targeted
    5
  • Transgenic
    1
  • Genomic Mutations
    3 involving Cyp27a1
  • Incidental Mutations
Mice homozygous for a knock-out allele exhibit signifcantly reduced production of bile acids, up-regulation of cholesterol 7alpha-hydroxylase, increased circulating levels of 7alpha-hydroxycholesterol, and somewhat higher serum 25-hydroxyvitamin D levels.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000048252 VEGA Gene Model | MGI Sequence Detail 24319 C57BL/6J ±  kb
transcript OTTMUST00000123850 VEGA | MGI Sequence Detail 1892 Not Applicable  
polypeptide OTTMUSP00000067524 VEGA | MGI Sequence Detail 533 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    125 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
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  • All nucleic 68
    Genomic 4
    cDNA 61
    Primer pair 3

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-2311, MGI:1922018
References
more
  • Summaries
    All 64
    Developmental Gene Expression 5
    Gene Ontology 7
    Phenotypes 31
  • Earliest
    J:35016 Cali JJ, et al., Characterization of human sterol 27-hydroxylase. A mitochondrial cytochrome P-450 that catalyzes multiple oxidation reaction in bile acid biosynthesis. J Biol Chem. 1991 Apr 25;266(12):7774-8
  • Latest
    J:217183 Zheng W, et al., Pathways of cholesterol homeostasis in mouse retina responsive to dietary and pharmacologic treatments. J Lipid Res. 2015 Jan;56(1):81-97

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
05/17/2016
MGI 6.03
The Jackson Laboratory